List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)	rs111033260	0.00012
NM_033056.4(PCDH15):c.4644_4689dup (p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer)	rs751539473	0.00004
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)	rs202033121	0.00002
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)	rs727504301
NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs)	rs2079481708

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